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Germline variant in REXO2 is a novel candidate gene in familial pheochromocytoma

Pheochromocytoma (PCC) is a rare, mostly benign tumour of the adrenal medulla. Hereditary PCC accounts for ~35% of cases and has been associated with germline mutations in several cancer susceptibility genes (e.g., KIF1B, SDHB, VHL, SDHD, RET). We performed whole-exome sequencing in a family with fo...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Res (Camb)
Prif Awduron: Laitman, Yael, Tzur, Shay, Attai, Ruben, Tirosh, Amit, Friedman, Eitan
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Cambridge University Press 2020
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7214532/
https://ncbi.nlm.nih.gov/pubmed/32354376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672320000038
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